Revel Score:
ENST00000449967
0.091
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730416G>A , CM000664.2:g.214730416G>A | GRCh38 |
| NC_000002.11:g.215595140G>A , CM000664.1:g.215595140G>A | GRCh37 |
| NC_000002.10:g.215303385G>A | NCBI36 |
| NG_012047.2:g.84289C>T | |
| NG_012047.3:g.84296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1996C>T MANE Select | ENSP00000260947.4:p.Gln666Ter | |
| ENST00000421162.2:c.643C>T | ENSP00000392245.2:p.Gln215Ter | |
| ENST00000613192.2:c.*59C>T | ENSP00000483275.2:n.*59C>T | |
| ENST00000613374.5:c.586C>T | ENSP00000484464.1:p.Gln196Ter | |
| ENST00000613706.5:c.1588C>T | ENSP00000484976.2:p.Gln530Ter | |
| ENST00000617164.5:c.1939C>T | ENSP00000480470.1:p.Gln647Ter | |
| ENST00000619009.5:c.457C>T | ENSP00000482293.1:p.Gln153Ter | |
| ENST00000650978.1:c.3371C>T | ||
| ENST00000260947.8:c.1996C>T | ENSP00000260947.4:p.Gln666Ter | |
| ENST00000421162.1:c.643C>T | ENSP00000392245.1:p.Gln215Ter | |
| ENST00000432456.5:c.93C>T | ||
| ENST00000455743.5:c.*1616C>T | ENSP00000412186.1:n.*1616C>T | |
| ENST00000471590.5:n.331C>T | ||
| ENST00000613192.1:c.166C>T | ENSP00000483275.1:p.Gln56Ter | |
| ENST00000613374.4:c.586C>T | ENSP00000484464.1:p.Gln196Ter | |
| ENST00000613706.4:c.643C>T | ENSP00000484976.1:p.Gln215Ter | |
| ENST00000617164.4:c.1939C>T | ENSP00000480470.1:p.Gln647Ter | |
| ENST00000619009.4:c.457C>T | ENSP00000482293.1:p.Gln153Ter | |
| ENST00000620057.4:c.*662C>T | ENSP00000481988.1:n.*662C>T | |
| NM_000465.3:c.1996C>T | NP_000456.2:p.Gln666Ter | |
| NM_001282543.1:c.1939C>T | NP_001269472.1:p.Gln647Ter | |
| NM_001282545.1:c.643C>T | NP_001269474.1:p.Gln215Ter | |
| NM_001282548.1:c.586C>T | NP_001269477.1:p.Gln196Ter | |
| NM_001282549.1:c.457C>T | NP_001269478.1:p.Gln153Ter | |
| NR_104212.1:n.1989C>T | ||
| NR_104215.1:n.1932C>T | ||
| NR_104216.1:n.1188C>T | ||
| XM_011511567.1:c.1942C>T | XP_011509869.1:p.Gln648Ter | |
| XM_017004613.1:c.2095C>T | XP_016860102.1:p.Gln699Ter | |
| XR_002959322.1:n.2186C>T | ||
| NM_000465.4:c.1996C>T MANE Select | NP_000456.2:p.Gln666Ter | |
| NM_001282543.2:c.1939C>T | NP_001269472.1:p.Gln647Ter | |
| NM_001282545.2:c.643C>T | NP_001269474.1:p.Gln215Ter | |
| NM_001282548.2:c.586C>T | NP_001269477.1:p.Gln196Ter | |
| NM_001282549.2:c.457C>T | NP_001269478.1:p.Gln153Ter | |
| NR_104212.2:n.1961C>T | ||
| NR_104215.2:n.1904C>T | ||
| NR_104216.2:n.1160C>T |